F29V (p.Phe29Val) variant of SH2B3 (SH2B adapter protein 3)
F29V (p.Phe29Val) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
F29V (p.Phe29Val) variant details
- p.Phe29Val
- TOPMed rs1871228675
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.56
- MetaSVM 0.21
- SIFT 0.00
- Structural context available